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Sophie Moniez, Catherine Pienkowski, Benoit Lepage, Safouane Hamdi, Myriam Daudin, Isabelle Oliver, Béatrice Jouret, Audrey Cartault, Gwenaelle Diene, Alain Verloes, Hélène Cavé, Jean-Pierre Salles, Maithé Tauber, Armelle Yart, Thomas Edouard, Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency, European Journal of Endocrinology, Volume 179, Issue 6, Dec 2018, Pages 409–418, https://doi.org/10.1530/EJE-18-0582
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Abstract
Abnormalities in the hypothalamo–pituitary–gonadal axis have long been reported in Noonan syndrome (NS) males with only few data available in prepubertal children.
The aim of this study was to describe the gonadal function of NS males from childhood to adulthood.
It is a retrospective chart review.
A total of 37 males with a genetically confirmed diagnosis of NS were included. Clinical and genetic features, as well as serum hormone levels (LH, FSH, testosterone, anti-Müllerian hormone (AMH), and inhibin B) were analysed.
Of the 37 patients, 16 (43%) children had entered puberty at a median age of 13.5 years (range: 11.4–15.0 years); age at pubertal onset was negatively correlated with BMI SDS (r = −0.541; P = 0.022). In pubertal boys, testosterone levels were normal suggesting a normal Leydig cell function. In contrast, NS patients had significant lower levels of AMH (mean SDS: −0.6 ± 1.1; P = 0.003) and inhibin B (mean SDS: −1.1 ± 1.2; P < 0.001) compared with the general population, suggesting a Sertoli cell dysfunction. Lower AMH and inhibin B levels were found in NS-PTPN11 patients, whereas these markers did not differ from healthy children in SOS1 patients. No difference was found between cryptorchid and non-cryptorchid patients for AMH and inhibin B levels (P = 0.43 and 0.62 respectively). Four NS-PTPN11 patients had a severe primary hypogonadism with azoospermia/cryptozoospermia.
NS males display Sertoli cell-specific primary testicular insufficiency, whereas Leydig cell function seems to be unaffected.
